Article
Biochemistry & Molecular Biology
Nora Zsindely, Gabor Nagy, Fruzsina Siagi, Anita Farkas, Laszlo Bodai
Summary: Huntington's disease (HD) is a fatal neurodegenerative disorder caused by a repeat expansion in the Huntingtin gene. In a Drosophila model of HD, dysregulation of miRNA and mRNA expression was observed. Dysregulated miRNAs were found to impact similar molecular pathways as dysregulated mRNAs. Overexpression of certain misregulated miRNAs enhanced or ameliorated HD phenotypes in the model.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
Review
Psychiatry
Myriam Thoma, Nicolas Rohleder, Shauna L. Rohner
Summary: The climate and environmental crisis has significant adverse impacts on human mental health and requires further research and attention.
FRONTIERS IN PSYCHIATRY
(2021)
Review
Clinical Neurology
Kathryn J. Peall, Michael J. Owen, Jeremy Hall
Summary: Understanding rare genetic brain disorders with overlapping neurological and psychiatric phenotypes is important for studying more common polygenic disorders. However, the clinical boundaries between neurology and psychiatry often limit cross-specialty understanding and advances in research.
NATURE REVIEWS NEUROLOGY
(2023)
Review
Neurosciences
Zainab Irfan, Sofia Khanam, Varnita Karmakar, Sayeed Mohammed Firdous, Bothaina Samih Ismail Abou El Khier, Ilyas Khan, Muneeb U. Rehman, Andleeb Khan
Summary: Huntington's disease is a neuro-degenerative disorder characterized by abnormal movements, cognitive and psychiatric disorders. The expansion of CAG trinucleotide in the htt gene leads to neuronal death and network degeneration in the brain, causing loss of motor coordination and muscle function.
Review
Neurosciences
Guendalina Bergonzoni, Jessica Doring, Marta Biagioli
Summary: Huntington's disease is a devastating neurodegenerative disorder caused by an aberrant expansion of the CAG tract within the HTT gene. Despite the ubiquity of the HTT gene, striatal Medium-sized Spiny Neurons are particularly vulnerable to the HD mutation, with D1R and D2R displaying different susceptibility. Understanding cell type-specific gene expression dysregulation in the striatum may offer new paths for therapeutic intervention in HD patients.
FRONTIERS IN CELLULAR NEUROSCIENCE
(2021)
Review
Biochemistry & Molecular Biology
Laura Gomez-Jaramillo, Fatima Cano-Cano, Maria del Carmen Gonzalez-Montelongo, Antonio Campos-Caro, Manuel Aguilar-Diosdado, Ana Arroba
Summary: This review focuses on the effects of peripheral tissues in Huntington's disease and identifies biomarkers and mechanisms as new therapeutic or early diagnostic options. The article describes the specific changes in peripheral tissues such as serum/plasma, blood cells, pancreas, heart, retina, liver, kidney and pericytes as a part of the blood-brain barrier.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2022)
Article
Neurosciences
Yueyi Yu, Yuanyuan Lu, Fen Wang, Yan Lu, Beijia Xie, Xiaosheng Meng, Yi Tang
Summary: Neuroacanthocytosis (NA) and Huntington's disease (HD) are neurodegenerative conditions with distinct genetic etiologies but overlapping clinical symptoms and imaging findings. This study identified four patients with HD and acanthocytosis, suggesting a potential combination of the two conditions and expanding the clinical phenotype of HD. The presence of acanthocytes in peripheral blood may provide valuable diagnostic information in familial choreiform disorders.
FRONTIERS IN NEUROSCIENCE
(2022)
Review
Biochemistry & Molecular Biology
Sarah Jane Annesley, Paul Robert Fisher
Summary: The study of mitochondrial function in neurological disorders is challenging due to the inaccessibility of brain tissue, but the use of lymphoblastoid cell lines (LCLs) is an effective approach. These cell models can help understand mitochondrial defects, signaling pathways, and biomarkers in neurological disorders, and are valuable for the development of diagnostic tests and identification of drug targets.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2021)
Article
Biochemistry & Molecular Biology
Christiana C. C. Christodoulou, Eleni Zamba Papanicolaou
Summary: This study identified differentially expressed genes (DEGs), pathways, and miRNAs related to Huntington's Disease (HD) using bioinformatics analysis. The findings shed light on the underlying molecular mechanisms of HD and provide potential therapeutic targets.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
Article
Biochemistry & Molecular Biology
Ming-Jen Lee, Inyoul Lee, Kai Wang
Summary: The development of new sequencing technologies in the post-genomic era has accelerated the identification of causative mutations of several single gene disorders. Advances in cell and animal models provide insights into the underlying pathogenesis, which facilitates the development and maturation of new treatment strategies. The progress in biochemistry and molecular biology has established a new class of therapeutics-the short RNAs and expressible long RNAs. The sequences of therapeutic RNAs can be optimized to enhance their stability and translatability with reduced immunogenicity.
Article
Biochemistry & Molecular Biology
Shanaika J. Devadiga, Sonali S. Bharate
Summary: Huntington's disease is a rare and incurable neurodegenerative disorder. There are only two FDA-approved drugs for managing the symptoms associated with Huntington's disease, while other drugs are used off-label. Currently, drug repurposing and various clinical studies are being conducted to find new treatments for Huntington's disease.
BIOORGANIC CHEMISTRY
(2022)
Review
Biotechnology & Applied Microbiology
Lauren S. Talman, Amie L. Hiller
Summary: Disturbances of gait are present in all stages of Huntington's disease, significantly impacting the quality of life for affected individuals. A cross-disciplinary approach to gait evaluation in HD using objective measures is highlighted in this scoping review.
FRONTIERS IN BIOENGINEERING AND BIOTECHNOLOGY
(2021)
Review
Multidisciplinary Sciences
Baljit S. Khakh, Steven A. Goldman
Summary: Huntington's disease (HD) is a fatal neurodegenerative disease caused by a mutation in the huntingtin gene. Astrocytes in the striatum, a brain region affected in HD, play a role in the pathology of the disease. Dysfunctions in astrocytes contribute to cellular and metabolic abnormalities in HD, suggesting the potential for therapeutic targeting of these cells to restore normal function.
ANNALS OF THE NEW YORK ACADEMY OF SCIENCES
(2023)
Review
Cell Biology
Natalia Villar-Gomez, Doddy Denise Ojeda-Hernandez, Eneritz Lopez-Muguruza, Silvia Garcia-Flores, Natalia Bonel-Garcia, Maria Soledad Benito-Martin, Belen Selma-Calvo, Alejandro Arturo Canales-Aguirre, Juan Carlos Mateos-Diaz, Paloma Montero-Escribano, Jordi A. Matias-Guiu, Jorge Matias-Guiu, Ulises Gomez-Pinedo
Summary: Cell therapy has great potential for the treatment of neurological disorders, promoting neuroprotection, neuroplasticity, and neuroregeneration. Administration of therapeutic molecules via the intranasal route is a promising non-conventional approach, allowing direct access to the central nervous system. The integration of biomaterials in cell therapy is an important area for future research.
Review
Biochemistry & Molecular Biology
Joern R. Steinert, Haitham Amal
Summary: Nitric oxide and other redox active molecules, as well as the homeostatic regulation of divalent metal ions, play crucial roles in neuronal functions. However, an imbalance in their production and clearance leads to oxidative stress, which is associated with neurodegenerative and neurological conditions. Antioxidant molecules and enzymes are involved in maintaining a physiological redox status in neurons. Imbalanced redox homeostasis caused by neuroinflammatory processes can result in nitrosative and oxidative stress, leading to neuronal dysfunction. Ongoing research aims to understand the causes and consequences of such imbalanced redox homeostasis.
FREE RADICAL BIOLOGY AND MEDICINE
(2023)
Article
Biochemistry & Molecular Biology
David M. Howard, Oliver Pain, Ryan Arathimos, Miruna C. Barbu, Carmen Amador, Rosie M. Walker, Bradley Jermy, Mark J. Adams, Ian J. Deary, David Porteous, Archie Campbell, Patrick F. Sullivan, Kathryn L. Evans, Louise Arseneault, Naomi R. Wray, Michael Meaney, Andrew M. McIntosh, Cathryn M. Lewis
Summary: Early life environments influence DNA methylation, but no overlap was found between these environments and mental health conditions in this study.
HUMAN MOLECULAR GENETICS
(2022)
Article
Cell Biology
Katerina O. Gospodinova, Ditte Olsen, Mathias Kaas, Susan M. Anderson, Jonathan Phillips, Rosie M. Walker, Mairead L. Bermingham, Abigail L. Payne, Panagiotis Giannopoulos, Divya Pandya, Tara L. Spires-Jones, Catherine M. Abbott, David J. Porteous, Simon Glerup, Kathryn L. Evans
Summary: This study reveals a novel role for SORCS2 in DNA double-strand break formation, showing that loss of SORCS2 leads to increased DSB levels and reduced neuronal viability. These findings contribute to our understanding of the pathogenesis of neurodegenerative disorders.
CELLULAR AND MOLECULAR NEUROBIOLOGY
(2023)
Correction
Psychiatry
Jan Bressler, Gail Davies, Albert V. Smith, Yasaman Saba, Joshua C. Bis, Xueqiu Jian, Caroline Hayward, Lisa Yanek, Jennifer A. Smith, Saira S. Mirza, Ruiqi Wang, Hieab H. H. Adams, Diane Becker, Eric Boerwinkle, Archie Campbell, Simon R. Cox, Gudny Eiriksdottir, Chloe Fawns-Ritchie, Rebecca F. Gottesman, Megan L. Grove, Xiuqing Guo, Edith Hofer, Sharon L. R. Kardia, Maria J. Knol, Marisa Koini, Oscar L. Lopez, Riccardo E. Marioni, Paul Nyquist, Alison Pattie, Ozren Polasek, David J. Porteous, Igor Rudan, Claudia L. Satizabal, Helena Schmidt, Reinhold Schmidt, Stephen Sidney, Jeannette Simino, Blair H. Smith, Stephen T. Turner, Sven J. van der Lee, Erin B. Ware, Rachel A. Whitmer, Kristine Yaffe, Qiong Yang, Wei Zhao, Vilmundur Gudnason, Lenore J. Launer, Annette L. Fitzpatrick, Bruce M. Psaty, Myriam Fornage, M. Arfan Ikram, Cornelia M. van Duijn, Sudha Seshadri, Thomas H. Mosley, Ian J. Deary
TRANSLATIONAL PSYCHIATRY
(2022)
Article
Medicine, General & Internal
Miruna C. Barbu, Carmen Amador, Alex S. F. Kwong, Xueyi Shen, Mark J. Adams, David M. Howard, Rosie M. Walker, Stewart W. Morris, Josine L. Min, Chunyu Genetics DNA Methylation Consortium, Chunyu Liu, Jenny van Dongen, Mohsen Ghanbari, Caroline Relton, David J. Porteous, Archie Campbell, Kathryn L. Evans, Heather C. Whalley
Summary: This study found that DNA methylation scores of lifestyle and biochemical factors were associated with the risk of major depressive disorder (MDD), suggesting that these scores may serve as dynamic biomarkers for MDD risk. However, the effects of smoking, alcohol consumption, and BMI on MDD became non-significant after adjusting for relevant lifestyle factors.
Article
Public, Environmental & Occupational Health
Ingibjorg Magnusdottir, Aniko Lovik, Anna Bara Unnarsdottir, Daniel McCartney, Helga Ask, Kadri Koiv, Lea Arregui Nordahl Christoffersen, Sverre Urnes Johnson, Arna Hauksdottir, Chloe Fawns-Ritchie, Dorte Helenius, Juan Gonzalez-Hijon, Li Lu, Omid Ebrahimi, Asle Hoffart, David J. Porteous, Fang Fang, Johanna Jakobsdottir, Kelli Lehto, Ole A. Andreassen, Ole B. Pedersen, Thor Aspelund, Unnur Anna Valdimarsdottir
Summary: This study investigated the long-term mental health of COVID-19 patients and found that severe illness is associated with long-term mental morbidity among recovering individuals. These findings highlight the importance of monitoring the mental health of patients with severe acute phases of COVID-19.
LANCET PUBLIC HEALTH
(2022)
Article
Neurosciences
Jeesun Jung, Daniel L. McCartney, Josephin Wagner, Joyce Yoo, Andrew S. Bell, Lucas A. Mavromatis, Daniel B. Rosoff, Colin A. Hodgkinson, Hui Sun, Melanie Schwandt, Nancy Diazgranados, Alicia K. Smith, Vasiliki Michopoulos, Abigail Powers, Jennifer Stevens, Bekh Bradley, Negar Fani, Rosie M. Walker, Archie Campbell, David J. Porteous, Andrew M. McIntosh, Steve Horvath, Riccardo E. Marioni, Kathryn L. Evans, David Goldman, Falk W. Lohoff
Summary: The relationships between stress, alcohol use disorder (AUD), and premature aging are not well understood. A study found that using composite scores and DNA methylation markers to measure the impact of stress and alcohol consumption on aging can offer new insights into the pathophysiology of premature aging in AUD.
BIOLOGICAL PSYCHIATRY
(2023)
Article
Cardiac & Cardiovascular Systems
Dorien M. Kimenai, Leah Pirondini, John Gregson, David Prieto, Stuart J. Pocock, Pablo Perel, Tilly Hamilton, Paul Welsh, Archie Campbell, David J. Porteous, Caroline Hayward, Naveed Sattar, Nicholas L. Mills, Anoop S. Shah
Summary: This study evaluates how socioeconomic deprivation status affects the performance of three primary prevention cardiovascular risk scores. The results show that risk scores that exclude socioeconomic deprivation as a covariate under- and overestimate the risk in the most and least deprived individuals, respectively. The study highlights the importance of incorporating socioeconomic deprivation status in risk estimation systems to ultimately reduce inequalities in healthcare provision for cardiovascular disease.
Article
Biochemistry & Molecular Biology
Jeesun Jung, Daniel L. McCartney, Josephin Wagner, Daniel B. Rosoff, Melanie Schwandt, Hui Sun, Corinde E. Wiers, Luana Martins de Carvalho, Nora D. Volkow, Rosie M. Walker, Archie Campbell, David J. Porteous, Andrew M. McIntosh, Riccardo E. Marioni, Steve Horvath, Kathryn L. Evans, Falk W. Lohoff
Summary: Chronic heavy alcohol consumption is associated with accelerated cellular aging, but the underlying mechanisms are not well understood. This study used a novel approach to investigate the role of alcohol use on aging by measuring DNA methylation-derived telomere length (DNAmTL). The findings showed that DNAmTL was significantly shorter in individuals with alcohol use disorder compared to healthy controls, and this association was independent of age, sex, race, and blood cell composition. DNAmTL shortening was strongly associated with chronic heavy alcohol use and elevated liver function markers.
MOLECULAR PSYCHIATRY
(2022)
Article
Psychology, Clinical
Laura de Nooij, Mark J. Adams, Emma L. Hawkins, Liana Romaniuk, Marcus R. Munafo, Ian S. Penton-Voak, Rebecca Elliott, Amy R. Bland, Gordon D. Waiter, Anca-Larisa Sandu, Tina Habota, J. Douglas Steele, Alison D. Murray, Archie Campbell, David J. Porteous, Generation Scotland, Andrew M. McIntosh, Heather C. Whalley
Summary: The study found subtle negative affective biases associated with depressive symptoms across the sample, independent of non-affective cognition, with no evidence of affective biases in individuals with remitted symptoms.
PSYCHOLOGICAL MEDICINE
(2023)
Article
Endocrinology & Metabolism
Spyros Vernardis, Vadim Demichev, Oliver Lemke, Nana-Maria Gruening, Christoph Messner, Matt White, Maik Pietzner, Alina Peluso, Tinh-Hai Collet, Elana Henning, Christoph Gille, Archie Campbell, Caroline Hayward, David J. Porteous, Riccardo E. Marioni, Michael Muelleder, Aleksej Zelezniak, Nicholas J. Wareham, Claudia Langenberg, I. Sadaf Farooqi, Markus Ralser
Summary: Humans exhibit profound responses to changes in diet, making it important to study the nutritional responses in depth. This study used high-throughput mass spectrometry to investigate the impact of caloric restriction and a glucose challenge on the plasma proteome, identifying proteins that correlate with metabolome and endocrine changes. The study highlights the role of APOC1 as a dominant nutritional responder and emphasizes the interdependency between acute nutritional response proteins and the endocrine system.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
(2023)
Article
Mathematical & Computational Biology
Ruth Boxall, Michael Holmes, Robin G. Walters
Summary: bubbleHeatmap is an R plotting package that combines elements of a bubble plot and heatmap to display two numerical variables for each data point across a categorical two dimensional grid. It is particularly useful for visualizing the large number of metabolomic measures provided by Nightingale Health.
BIOINFORMATICS ADVANCES
(2023)
Meeting Abstract
Cardiac & Cardiovascular Systems
D. Kimenai, L. Pirondini, J. Gregson, D. Prieto, S. J. Pocock, P. Perel, T. Hamilton, P. Welsh, A. Campbell, D. J. Porteous, C. Hayward, N. Sattar, N. L. Mills, A. S. Shah
EUROPEAN HEART JOURNAL
(2022)
Article
Psychiatry
Ellen J. Thompson, Jean Stafford, Bettina Moltrecht, Charlotte F. Huggins, Alex S. F. Kwong, Richard J. Shaw, Paola Zaninotto, Kishan Patel, Richard J. Silverwood, Eoin McElroy, Matthias Pierce, Michael J. Green, Ruth C. E. Bowyer, Jane Maddock, Kate Tilling, S. Vittal Katikireddi, George B. Ploubidis, David J. Porteous, Nic Timpson, Nish Chaturvedi, Claire J. Steves, Praveetha Patalay
Summary: This study, using data from 11 longitudinal studies in the UK, found associations between COVID-19 and deterioration in mental health, including psychological distress, depression, anxiety, and life satisfaction. The results also showed no significant interactions between COVID-19 and sex, education, ethnicity, or pre-pandemic mental health.
Article
Biotechnology & Applied Microbiology
Daniel L. McCartney, Robert F. Hillary, Eleanor L. S. Conole, Daniel Trejo Banos, Danni A. Gadd, Rosie M. Walker, Cliff Nangle, Robin Flaig, Archie Campbell, Alison D. Murray, Susana Munoz Maniega, Maria Del C. Valdes-Hernandez, Mathew A. Harris, Mark E. Bastin, Joanna M. Wardlaw, Sarah E. Harris, David J. Porteous, Elliot M. Tucker-Drob, Andrew M. McIntosh, Kathryn L. Evans, Ian J. Deary, Simon R. Cox, Matthew R. Robinson, Riccardo E. Marioni
Summary: By analyzing blood-based DNA methylation, individual differences in general cognitive function can be explained, which is important for tracking the development of neurodegenerative diseases. Assessing cognitive function using DNAm data may be valuable in environments where reliable or accessible cognitive testing is lacking.
Article
Gastroenterology & Hepatology
Cameron J. Fairfield, Thomas M. Drake, Riinu Pius, Andrew D. Bretherick, Archie Campbell, David W. Clark, Jonathan A. Fallowfield, Caroline Hayward, Neil C. Henderson, Peter K. Joshi, Nicholas L. Mills, David J. Porteous, Prakash Ramachandran, Robert K. Semple, Catherine A. Shaw, Cathie L. M. Sudlow, Paul R. H. J. Timmers, James F. Wilson, Stephen J. Wigmore, Ewen M. Harrison, Athina Spiliopoulou
Summary: This study conducted a case-control GWAS in the UK Biobank and identified six risk loci for NAFLD, with the ε4 allele of the APOE gene providing protection against NAFLD. The results suggest that using diagnostic codes from consensus guidelines is a valid alternative to more invasive and costly approaches for identifying NAFLD.
HEPATOLOGY COMMUNICATIONS
(2022)
